RESUMO
Trisomic X is a sex chromosomal abnormality that may be presented in mosaic. This is not extremely rare, the majority of cases go undiagnosed. The prevalence has been established to 1/1000 females. It is clinically characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. The association between the trisomic X and gastrointestinal malformations is extremely rare. We report a case of mosaic trisomic X with gastric obstruction expanding the clinical spectrum of this entity and emphasizing its unknown pathogenesis.
Assuntos
Gastroenteropatias/genética , Obstrução Intestinal/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Pré-Escolar , Cromossomos Humanos X/genética , Feminino , Humanos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genéticaRESUMO
El síndrome de Down es una entidad clínica-genética que se asocia frecuentemente con cardiopatías congénitas entre 40-60% y corresponde un aspecto importante en su evolución. Objetivo: Describir los diferentes tipos de alteraciones cardiacas presentes en los pacientes con síndrome de Down, evaluados en la Unidad de Genética Médica de la Universidad de Los Andes y compararla con estudios similares. Pacientes y métodos: Se realizó un estudio observacional y descriptivo desde enero de 2009 a diciembre de 2012 en 100 pacientes con síndrome de Down con estudio citogenético y de ecocardiografía. Resultados: Las cardiopatías congénitas se presentaron en 63% de los pacientes. La comunicación interventricular fue la lesión simple aislada más frecuente con 14 casos y la alteración cardiaca compleja aislada más frecuente fue el canal auriculoventricular completo en cuatro casos. Conclusiones: Las malformaciones cardíacas congénitas se presentan en una frecuencia importante en la población con síndrome de Down, los diversos tipos varían en diferentes etnias y en períodos diferentes en el mismo país. Se debe enfatizar la realización del diagnóstico precoz para evitar las complicaciones que se pueden exhibir de forma más rápida y graves en los individuos con esta entidad genética.
Down syndrome is a clinical-genetic entity that is often associated with congenital heart disease between 40-60% and has an important aspect in its evolution. Objective: Describe the different types of cardiac alterations present in patients with Down syndrome, evaluated at the Medical Genetics Unit of the University of Los Andes and compared with similar studies. Patients and methods: A descriptive and observational study was conducted from January 2009 to December 2012 with 100 patients with Down syndrome with cytogenetics study and echocardiography. Results: Congenital heart disease occurred in 63% of patients. The ventricular septal defect was the most frequent isolated single lesion with 14 cases and the complex cardiac dysfunction was the most frequent isolated complete atrioventricular canal in four cases. Conclusions: Congenital heart defects are present in a significant frequency in the population with Down syndrome, various types vary in different ethnic groups and in di erent periods in the same country. It should be emphasized the realization of early diagnosis to prevent complications that can be displayed in a more rapid and severe in individuals with this genetic entity.
RESUMO
OBJECTIVES: To establish the frequency of imperforate anus (IA) in the population with Down syndrome (DS) and study the associated risk factors. METHODS: An observational clinical study case control type was performed. The patients were evaluated at the Unit of Medical Genetics, University of the Andes, from February 2006 to February 2011. The patients with DS and IA were compared with 20 DS without IA. Antecedents of parents were obtained. RESULTS: The frequency de IA in the population with DS was 4.79%. The presence of fever in the first trimester of gestation and the rural origin were associated as risk factors of AI in patients with DS [OR: 25.33 (IC 95% 2.07- 310.76; P = 0.009) and OR: 7.50 (IC 95% 1.09 - 51.52; P = 0.043), respectively]. The maternal age superior to 35 years presented a marginal significance (P = 0.048). CONCLUSIONS: These papers emphasize the high frequency of IA in patients with DS and recommend to investigate the prenatal and environmental risk factors that can increase the presence of this anorectal anomaly in the population with DS, in order to consider them in the programs of prevention of congenital pathologies.
Assuntos
Anus Imperfurado/epidemiologia , Síndrome de Down/complicações , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco , Venezuela/epidemiologiaRESUMO
La obesidad ha emergido como uno de los problemas más serios de salud pública en el presente siglo. Los niños obesos tienen la tendencia a ser adultos obesos. Los factores genéticos y ambientales juegan una función importante en la valoración y manejo de esta entidad. En esta revisión se hace énfasis al síndrome de Prader-Willi la alteración más común que cursa con obesidad, síndrome de Angelman, osteodistrofia hereditaria de Albright, síndrome de Bardet-Bield, síndrome de Alström, síndrome de Carpenter, síndrome de Cohen, síndrome de Börjeson-Forssman-Lehman y síndrome de MEHMO, entre otros. También se discute la presencia de obesidad en el síndrome de Down y otras alteraciones cromosómicas. Finalmente se comenta las formas no sindromáticas de obesidad de aparición temprana resultado de la deficiencia de leptina, deficiencia del receptor de leptina, deficiencia de proopiomelanocortina y receptor de melanocortina 4. El mecanismo de acción de estos genes en el desarrollo de la obesidad se estudia actualmente, con el objetivo de descubrir eventualmente una intervención terapéutica de la obesidad.
Obesity has emerged as one of the most serious public health concerns in the 21st century. Obese children tend to become obese adults. Genetic and environmental factors play an important role in the assessment and management in this entity. In this review we focus particularly on Prader-Willi syndrome the commonest obesity syndrome, Angelman syndrome, Albright´s hereditary osteodystrophy, Bardet-Biedl syndrome, Alström syndrome, Carpenter syndrome, Cohen syndrome, Börjerson-Forssman-Lehman syndrome and MEHMO syndrome, among others. Also discuss the presence of obesity in Down syndrome and others chromosomal alterations. Finally, commenting non-syndromic form of early onset severe obesity as genetic defect resulting in leptin deficiency, leptin receptor deficiency, proopiomelanocrotin deficiency, and melanocrotin 4 receptor. The mechanisms of action of these genes in the development of obesity are now being studied, with the aim of eventually discovering a therapeutic intervention for obesity.
